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Molecular Genetics of Retinal Degenerations

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00231010
Recruitment Status : Completed
First Posted : October 3, 2005
Last Update Posted : April 5, 2018
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )

Brief Summary:

This multinational study will investigate the inheritance of genetic retinal degeneration in families of different nationalities and ethnic backgrounds in order to identify the genes that, when altered, cause retinal degeneration. The retina is a light-sensitive membrane lining the back part of the eye. It relays vision signals to the brain, which the brain interprets into sight. When the retina degenerates, vision is altered and possibly lost. The findings of this study should help improve diagnosis and methods of treatment for these disorders. Participating institutions include: the National Institutes for Health in Bethesda, Maryland; the University of Miami in Florida; the Casey Eye Institute in Portland, Oregon; the Byrd Health Sciences Center in Morgantown, West Virginia; the University of Texas Southwestern Medical School in Dallas, Texas; the University of Tennessee Health Sciences Center in Memphis; the Prasad Eye Institute in Hyderabad, India; National Center of Excellence in Molecular Biology in Lahore, Pakistan; and the Jules Gonin Hospital in Lausanne, Switzerland.

Patients with retinitis pigmentosa and closely related diseases such as Usher syndrome, snowflake vitreoretinal dystrophy and Bietti crystalline dystrophy may be eligible for this study. Participants undergo the following tests and procedures:

  • Medical and surgical history, including family history of vision problems.
  • Examination to clarify the type of retinal degeneration.
  • Eye examination, including tests of color vision, field of vision and ability to see in the dark
  • Electroretinogram to test the function of visual cells. For this test, the patient sits in a dark room for 30 minutes with his or her eyes patched. Then, a small electrode (silver disk) is taped to the forehead and the eye patches are removed. The surface the eyes is numbed with eye drops, and contact lenses are placed on the eyes. The patient looks inside a large dark globe that emits a series of light flashes. Then a light is turned on inside the globe and more lights flash. The contact lenses sense small electrical signals generated by the retina when the light flashes.
  • Hearing tests for patients with a personal or family history of deafness. Tests include an audiogram, ear examination and test of middle ear function. For middle ear function testing, the patient feels a little air pressure change for a moment and hears some tones. Another test requires the patient to sit quietly with electrodes on the head, forehead and earlobes.
  • Balance testing, including walking in a straight line, standing with eyes closed in the dark and other tests of coordination, and caloric testing. For the caloric testing, any ear wax in the ear canal is removed before the test begins. Then, electrodes are placed on the skin near the eyes and on the forehead. A small amount of cool (sometimes cold) or warm water is instilled into each ear canal, first one and then the other.
  • Blood sample collection for genetic testing.

Condition or disease
Retinal Degeneration Retinitis Pigmentosa

Detailed Description:

Objective: This project, Molecular Genetics of Retinal Degenerations will study the inheritance of genetic retinal degenerations, both Mendelian and complex, in families of many nationalities and ethnic backgrounds in order to identify the genes that, when mutated, cause retinal degenerations and the pathophysiology through which they act.

Study Population: The number of subjects to be enrolled has no logical upper limit, but will be at least 250 and below 5,000 during the next 5 years. The study consists of ascertaining individuals, and especially families with multiple individuals, affected by retinal degenerations including retinitis pigmentosa (RP) and also other closely related retinal degenerations such as Usher syndrome (USH) and Bietti crystalline dystrophy (BCD).

Design: These patients and their families will undergo detailed ophthalmological examinations and, where indicated, additional non-investigational examinations to characterize their retinal degeneration and determine their affectation status. A blood sample will be collected from each individual for isolation of DNA and in some individuals for lymphoblastoid transformation to establish a renewable source of DNA. Linkage analysis, association analysis, physical mapping, and mutational screening will be carried out to identify the specific gene and the mutations in it that are associated with retinal degenerations in this family. If necessary, the gene product will be characterized biochemically.

Outcome Measures: Linkage will be determines using the lod score method and mutations in specific genes will be assessed using a combination of residue conservation, blosum score, and molecular modeling. Association will be determined using chi-square and Fisher exact tests. Biochemical, metabolic, and physiological effects will be individualized to the specific assay.

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Study Type : Observational
Actual Enrollment : 3549 participants
Observational Model: Family-Based
Time Perspective: Other
Official Title: Molecular Genetics of Retinal Degenerations
Study Start Date : September 26, 2005
Study Completion Date : June 23, 2016

Primary Outcome Measures :
  1. V [ Time Frame: Ongoing ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   4 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

Patients that meet diagnostic criteria for specific retinal degenerations will be recruited from the NEI and collaborating clinics.

Subjects with the following will be recruited:

  1. Individuals or family members of individuals with Retinal degenerations, either congenital, childhood, or age related.
  2. Adults must be capable of providing their own consent.
  3. All subjects must be able to cooperate with study examination and phlebotomy.
  4. Older than 4 years of age.


  1. Diseases, infections, or trauma that mimic primary retinal degenerations.
  2. Children requiring sedation for study procedures.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00231010

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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
United States, Massachusetts
Harvard Medical School
Boston, Massachusetts, United States, 02115
United States, Ohio
Cleveland Clinic Foundation Childrens Hospital
Cleveland, Ohio, United States, 44195
Sun Yat-Sen University
Guangzhou, China, 510275
Aravind Eye Hospital
Maduri, India
University of Punjab
Lahore, Pakistan
Sponsors and Collaborators
National Eye Institute (NEI)
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Principal Investigator: James F Hejtmancik, M.D. National Eye Institute (NEI)

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Responsible Party: National Eye Institute (NEI) Identifier: NCT00231010     History of Changes
Other Study ID Numbers: 050143
First Posted: October 3, 2005    Key Record Dates
Last Update Posted: April 5, 2018
Last Verified: June 23, 2016
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ):
Retnitis Pigmentosa
Retinal Degeneration
Retinitis Pigmentosa
Usher Syndrome
Bietti Crystalline Dystrophy
Additional relevant MeSH terms:
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Retinitis Pigmentosa
Retinal Degeneration
Retinal Diseases
Eye Diseases
Eye Diseases, Hereditary
Retinal Dystrophies
Genetic Diseases, Inborn